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Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan

19 Feb 2021

Abstract excerpt

Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan. Totally, 312 families with IRDs were identified and recruited and genetic testing was performed via probe capture-based NGS targeting 212 IRD-related genes....

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PMID: 33608557
DOI: 10.1038/s41525-021-00180-1

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